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RNA sequencing-based identification of aberrant imprinting in cloned mice.
Okae H, Matoba S, Nagashima T, Mizutani E, Inoue K, Ogonuki N, Chiba H, Funayama R, Tanaka S, Yaegashi N, Nakayama K, Sasaki H, Ogura A, Arima T. Okae H, et al. Among authors: funayama r. Hum Mol Genet. 2014 Feb 15;23(4):992-1001. doi: 10.1093/hmg/ddt495. Epub 2013 Oct 8. Hum Mol Genet. 2014. PMID: 24105465
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. Aoki Y, et al. Among authors: funayama r. Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20. Am J Hum Genet. 2013. PMID: 23791108 Free PMC article.
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S. Hino-Fukuyo N, et al. Among authors: funayama r. Hum Genet. 2015 Jun;134(6):649-58. doi: 10.1007/s00439-015-1553-6. Epub 2015 Apr 16. Hum Genet. 2015. PMID: 25877686 Clinical Trial.
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y. Niihori T, et al. Among authors: funayama r. Am J Hum Genet. 2015 Dec 3;97(6):848-54. doi: 10.1016/j.ajhg.2015.10.010. Epub 2015 Nov 12. Am J Hum Genet. 2015. PMID: 26581901 Free PMC article.
84 results